Visceral steatosis, congenital

Preferred Label : Visceral steatosis, congenital;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Fatty liver disease, congenital; Fatty metamorphosis of viscera; Steatosis of liver; White liver disease;

Inheritance : Autosomal recessive;

Prefixed ID : 228100;

Details

Origin ID

228100;

UMLS CUI

C0341447;

Automatic exact mappings (from CISMeF team)
- Fatty metamorphosis of viscera (disorder) [SNOMED CT concept]
- Hepatic steatosis [HPO term]
- Non-alcoholic steatohepatitis [ORDO Disease]
- fatty liver [MeSH Descriptor]
- fatty liver [Artificial nutrition thesaurus concept]
- fatty liver disease [DO Concept]
- steatohepatitis [MeSH concept]
Currated CISMeF NLP mapping
- visceral steatosis, congenital [MeSH concept]
- visceral steatosis, congenital [MeSH Supplementary Concept]
DO Cross reference
- fatty liver disease [DO Concept]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of the genitourinary system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic steatosis [HPO term]
- Hypocalcemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Kernicterus [HPO term]
- Lethargy [HPO term]
- Myocardial steatosis [HPO term]
- Neonatal death [HPO term]
- Renal steatosis [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Non-alcoholic steatohepatitis [ORDO Disease]
See also inter- (CISMeF)
- steatohepatitis [Disease (Nov.)]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Fatty metamorphosis of viscera (disorder) [SNOMED CT concept]
- visceral steatosis, congenital [MeSH Supplementary Concept]
- visceral steatosis, congenital [MeSH concept]
Validated automatic mappings to NTBT
- Hepatic Steatosis [NCIt concept]
- Steatosis of liver (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients